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ORPHA:47

X-linked agammaglobulinemia

high confidenceSubtype of disorder

Also known as: BTK-deficiency · Bruton type agammaglobulinemia

Publications

3,694

90.6th percentile

Trials

5

Interventional, condition-specific

Researchers

1,554

Distinct authors in sample

Gene link

BTK

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

Bruton's Sex-linked agammaglobulinemia · Bruton's X-linked agammaglobulinemia · Bruton-type agammaglobulinemia · agammaglobulinemia, X-linked 1, X-linked recessive

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BTK

  2. LiteraturePresent

    3,694 matched papers (2,016 in last 10 years) Source

  3. Phenotype characterisedPresent

    71 HPO annotations (e.g. Infectious encephalitis; Septic arthritis; Meningitis) Source

  4. Animal modelPresent

    11 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BTK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

71

Associated phenotypes · MONDO:0010421

  • Infectious encephalitis
  • Septic arthritis
  • Meningitis
  • Decreased total T cell count
  • Recurrent urinary tract infections

Showing 5 of 71 — open Monarch for the full list.

Animal models (Monarch / Alliance)

11

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,694

3,694 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,694 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,016 in the last 10 years · high confidence · 90.6th percentile (publications denominator)

Phrase hits: 3,646 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,554

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kanegane H9 papers · 2026

    Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.

    Papers in Europe PMC
  2. 02
    Gennery AR5 papers · 2026

    Translational and Clinical Research Institute, Newcastle University, and Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  3. 03
    Morio T5 papers · 2026

    Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Warnatz K5 papers · 2026

    Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  5. 05
    Cunningham-Rundles C4 papers · 2025

    Division of Allergy and Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.

    Papers in Europe PMC
  6. 06
    Kilic SS4 papers · 2026

    Department of Pediatric Immunology and Rheumatology, Uludag University Faculty of Medicine, Bursa, Turkey. sebnemkl@uludag.edu.tr.

    Papers in Europe PMC
  7. 07
    Ochs HD4 papers · 2025

    Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Wash.

    Papers in Europe PMC
  8. 08
    Quinti I4 papers · 2025

    Department of Molecular Medicine, Sapienza University, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Smith CIE4 papers · 2025

    Department of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden.

    Papers in Europe PMC
  10. 10
    Zhang Y4 papers · 2026

    Center for Drug Safety Evaluation and Research of Zhejiang University, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, Zhejiang, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting. 9 trials are registered for agammaglobulinemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: agammaglobulinemia

9

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for X-linked agammaglobulinemia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("X-linked agammaglobulinemia" OR "BTK-deficiency" OR "Bruton type agammaglobulinemia" OR "Bruton's Sex-linked agammaglobulinemia" OR "Bruton's X-linked agammaglobulinemia" OR "Bruton-type agammaglobulinemia" OR "agammaglobulinemia, X-linked 1, X-linked recessive") OR ("BTK syndrome" OR "BTK-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked agammaglobulinemia" OR "BTK-deficiency" OR "Bruton type agammaglobulinemia" OR "Bruton's Sex-linked agammaglobulinemia" OR "Bruton's X-linked agammaglobulinemia" OR "Bruton-type agammaglobulinemia" OR "agammaglobulinemia, X-linked 1, X-linked recessive"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"agammaglobulinemia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:13:28.920Z